Research output per year
Research output per year
Personal profile
Short presentation
Mette Bertelsen is a clinical associate professor and a clinical geneticist at the Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet where she is clinical coordinator and responsible for Opthalmogenetics and Audiogenetics
The main research focus areas:
- Genetic hearing impairment both syndromic and non-syndromic
- Hereditary eye disorders including inherited retinal diseases, optic nerve atrophy, congenital cataracts and glaucoma.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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Novel Blood-Biomarkers to Detect Retinal Neurodegeneration and Inflammation in Diabetic Retinopathy
Hajari, J. N., Ilginis, T., Pedersen, T. T., Lønkvist, C. S., Saunte, J. P., Hofsli, M., Schmidt, D. C., Al-abaiji, H. A., Ahmed, Y., Bach-Holm, D., Kessel, L., Kolko, M., Bertelsen, M., Larsen, L. M., Sørensen, F., Forman, J. L., Olsen, D. A., Rosenberg, T., Brandslund, I. & Slidsborg, C., 2025, In: International Journal of Molecular Sciences. 26, 6, 14 p., 2625.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Citation (Scopus)8 Downloads (Pure) -
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants
Serey-Gaut, M., Balogoun, R., Jonard, L., Lina-Granade, G., Touraine, R., Willems, M., Hepp, N., Rendtorff, N. D., Bertelsen, M., Loundon, N., Couloigner, V., Lemiere, I., de Oliveira, J., Romana, S., Porteret, C., Blanc, P., Mansard, L., Marlin, S., Roux, A.-F. & Pingault, V., 2025, In: Human Genetics. 144, 4, p. 433-441 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Whole genome sequencing of 10 families with optic disc drusen
Steensberg, A. H., Ovens, C., Fraser, C. L., Malmqvist, L., Bertelsen, M., Grønskov, K. & Hamann, S., 2025, In: Ophthalmic Genetics. 46, 2, p. 174-179 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure) -
Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients
Steensberg, A. H., Al-Hamdani, S., Hansen, M. S., Klefter, O. N., Bertelsen, M. & Hamann, S., 2024, In: Diagnostics. 14, 24, 2 p., 2797.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile4 Downloads (Pure) -
Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen
Steensberg, A. H., Malmqvist, L., Bertelsen, M., Kessel, L., Grønskov, K. & Hamann, S., 2024, In: Frontiers in Ophthalmology. 4, 5 p., 1476911.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure) -
Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study
Steensberg, A. H., Schmidt, D. C., Malmqvist, L., Kessel, L., Bertelsen, M., Grønskov, K. & Hamann, S., 2024, In: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 44, 4, p. 483-487 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Phenotypic characteristics of Danish patients with achromatopsia
Andersen, M. K. G., Bertelsen, M., Gundestrup, S., Grønskov, K. & Kessel, L., 2024, In: Acta Ophthalmologica. 102, 6, p. e893-e905 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile3 Citations (Scopus)30 Downloads (Pure) -
Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study
Lisbjerg, K., Bertelsen, M., Grønskov, K. & Kessel, L., 2023, In: Ophthalmic Genetics. 44, 5, p. 456-464 9 p.Research output: Contribution to journal › Journal article › Research › peer-review